Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

Abstract

Our study extends a cross-sectional dataset on the Ehlers-Danlos syndromes (EDS) assembled by the National Institute on Aging (NIA), under a protocol entitled Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue. We were successful in contacting 171 of the original 252 participants with EDS. Our study cohort included 91 participants who completed at least one of the following surveys: Brief Pain Inventory (BPI), Pittsburgh Sleep Quality Index (PSQI), Multidimensional Fatigue Inventory (MFI-20), and Short Form (SF-36) Health Survey, at both baseline and follow-up. Follow-up surveys occurred a median of 11.6 years after the baseline survey. We used mixed effects linear regression models to examine the change in scores for multiple indices reported by participants. There were small mean changes reflected in our estimates for the EDS population as a whole. There was wide heterogeneity between reported individual experiences, with some participants markedly improved and some dramatically worse. Men had a greater increase in mean pain severity over time than women. This is the first study to report a decade of longitudinal data in EDS.

Clinical trajectory of hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders in older adults

“…Supplemental Digital Content 1 (Table 1, http://links.lww.com/JAANP/A215) shows the characteristics of the included studies. Six studies were conducted in the United States (Alomari et al, 2020; Bergl et al, 2019; Glayzer et al, 2021; Murray et al, 2013; Schubart et al, 2019, 2022), four in France (Baeza-Velasco et al, 2021; Bénistan & Martinez, 2019; Hugon-Rodin et al, 2016; Kalisch et al, 2019), two in Belgium (Coussens et al, 2021; De Wandele et al, 2014), two in Italy (Castori et al, 2015; Puledda et al, 2015), and one in the Netherlands (Scheper et al, 2016). Two studies were retrospective reviews (Alomari et al, 2020; Schubart et al, 2019), two were longitudinal (Coussens et al, 2021; Schubart et al, 2022), and one each case–control (Puledda et al, 2015), prospective case series (Bénistan & Martinez, 2019), and individual case report (Bergl et al, 2019).…”

“…Eight studies used in-person clinical assessments or questionnaires (Baeza-Velasco et al, 2021; Bénistan & Martinez, 2019; Castori et al, 2015; Coussens et al, 2021; Hugon-Rodin et al, 2016; Kalisch et al, 2019; Puledda et al, 2015; Scheper et al, 2016). Four studies used only postal or internet surveys (De Wandele et al, 2014; Glayzer et al, 2021; Murray et al, 2013; Schubart et al, 2022). The remaining studies extracted data from existing records (Alomari et al, 2020; Bergl et al, 2019; Schubart et al, 2019).…”

“…The study aims and outcomes varied widely. Two longitudinal studies examined physiologic function or symptom evolution over time (Coussens et al, 2021; Schubart et al, 2022). Other studies evaluated the prevalence of hEDS/HSD-associated symptoms or comorbidities, such as gut dysmotility (Alomari et al, 2020), mucocutaneous findings (Castori et al, 2015), autonomic symptoms (De Wandele et al, 2014), gynecologic symptoms (Glayzer et al, 2021; Hugon-Rodin et al, 2016), pain (Bénistan & Martinez, 2019; Kalisch et al, 2019; Murray et al, 2013), migraine headaches (Puledda et al, 2015), muscle strength (Scheper et al, 2016), and suicidal behaviors (Baeza-Velasco et al, 2021).…”

“…Most participants reported that pain began in childhood or adolescence (Baeza-Velasco et al, 2021; Bénistan & Martinez, 2019; Bergl et al, 2019; Hugon-Rodin et al, 2016; Murray et al, 2013). Participants characterized the pain as severe, chronic, and increasing over time (Baeza-Velasco et al, 2021; Bénistan & Martinez, 2019; Schubart et al, 2022). Most reported pain was musculoskeletal, primarily joint pain (Bénistan & Martinez, 2019; Coussens et al, 2021; Hugon-Rodin et al, 2016; Scheper et al, 2016; Schubart et al, 2019); however, abdominal pain (Alomari et al, 2020), migraine headaches (Puledda et al, 2015), and pelvic/vaginal pain (Glayzer et al, 2021; Hugon-Rodin et al, 2016) were also reported.…”

“…Most reported pain was musculoskeletal, primarily joint pain (Bénistan & Martinez, 2019; Coussens et al, 2021; Hugon-Rodin et al, 2016; Scheper et al, 2016; Schubart et al, 2019); however, abdominal pain (Alomari et al, 2020), migraine headaches (Puledda et al, 2015), and pelvic/vaginal pain (Glayzer et al, 2021; Hugon-Rodin et al, 2016) were also reported. Besides pain, severe, chronic fatigue was reported in many studies (Bénistan & Martinez, 2019; De Wandele et al, 2014; Hugon-Rodin et al, 2016; Kalisch et al, 2019; Scheper et al, 2016; Schubart et al, 2019, 2022). Diagnosis delays were common, ranging from 14 years (Bénistan & Martinez, 2019) to 22 years (Hugon-Rodin et al, 2016; Kalisch et al, 2019).…”